AutismKB 2.0

Annotation Details for AIM2


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Basic Information Top
Gene Symbol:AIM2 ( PYHIN4 )
Gene Full Name: absent in melanoma 2
Band: 1q23.1-q23.2
Quick LinksEntrez ID:9447; OMIM: 604578; Uniprot ID:AIM2_HUMAN; ENSEMBL ID: ENSG00000163568; HGNC ID: 357
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005654IDA-nucleoplasm-
GO:0005737IDA-cytoplasm19158676
GO:0005739IDA-mitochondrion-
GO:0005829IDA-cytosol-
GO:0005829TAS-cytosol-
GO:0097169IDA-AIM2 inflammasome complex19158676
GO ID Evidence Qualifier GO_term References
GO:0003690IDA-double-stranded DNA binding19158675
GO:0005515IPI-protein binding19158676
GO:0042802IPI-identical protein binding19158676
GO ID Evidence Qualifier GO_term References
GO:0002218IDA-activation of innate immune response19158675
GO:0002230ISS-positive regulation of defense response to virus by host-
GO:0006915IEA-apoptotic process-
GO:0006954IEA-inflammatory response-
GO:0006955TAS-immune response9242382
GO:0032088IDA-negative regulation of NF-kappaB transcription factor activity16432157
GO:0032461IDA-positive regulation of protein oligomerization19158676
GO:0032731IDA-positive regulation of interleukin-1 beta production19158675
GO:0033209IDA-tumor necrosis factor-mediated signaling pathway16432157
GO:0035458IEA-cellular response to interferon-beta-
GO:0035690IDA-cellular response to drug19158679
GO:0045087IEA-innate immune response-
GO:0050702IMP-interleukin-1 beta secretion19158679
GO:0050718IDA-positive regulation of interleukin-1 beta secretion19158679
GO:0051092IDA-positive regulation of NF-kappaB transcription factor activity19158675
GO:0070269IDA-pyroptosis19158675
GO:2001056IDA-positive regulation of cysteine-type endopeptidase activity19158676
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2686159
  • Data Attributes: HomoloGene calculated
No data
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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018